2023
DOI: 10.1002/ajmg.a.63158
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Venous malformation may be a feature of EXT1‐related hereditary multiple exostoses: A report of two unrelated probands

Abstract: Hereditary multiple exostoses (HME), also known as hereditary multiple osteochondroma (HMO), is an autosomal dominant disorder caused by pathogenic variants in exostosin‐1 or ‐2 (EXT1 or EXT2). It is characterized by the formation of multiple benign growing osteochondromas (exostoses) that most commonly affect the long bones; however, it may also occur throughout the body. Although many of these lesions are clinically asymptomatic, some can lead to chronic pain and skeletal deformities and interfere with adjac… Show more

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Cited by 3 publications
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